A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5543741



Internal ID317966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:95430007..95430018hg38UCSC Ensembl
chr14:95896344..95896355hg19UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17698641
Samples
Known GenesSYNE3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5543741
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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